Genes that increase risk of osteoporosis and fractures discovered

Researchers have identified the genetic variations that are believed to cause osteoporosis. They found that women with a higher proportion of genetic variations associated with osteoporosis have a more than 50 percent increased fracture risk. Osteoporosis is a common and a devastating age-related disease. About 50 percent of all who have a hip fracture after age 80 die within one year from the time of injury. The consequences of osteoporosis are therefore well-known, but the causes of the disease are largely unknown. In a groundbreaking international study, which is led partially from the Sahlgrenska Academy at the University of Gothenburg, Sweden, researchers have now succeeded in identifying a total of 56 genetic regions that control bone density in human beings. Fourteen of these genetic variants increase the risk of fractures, the study has found. “This is the first time anyone has identified the genetic variants that are so strongly associated with an increased risk of fracture,” said Claes Ohlsson, a professor at the Sahlgrenska Academy. An international consortium, which also involves researchers from Umea University, Uppsala University and Malmpo University, is behind the study. In total, the researchers studied the genetic make-up of a total of 80,000 people and 30,000 fracture cases, making it the world`s largest genetic study in this particular area of research. “We can prove that women who have a large number of genetic variants associated with low bone density have up to a 56 percent higher risk of osteoporosis as compared with women who have a normal set-ups of the same genetic variants,” Ohlsson added. The results have led to several new findings in bone biology, among other things the researchers identified several important molecular signaling pathways for bone density that can be targets for new treatment methods and therapies. “In addition to already known proteins and pathways that were confirmed by the study, we are now facing a whole new biology in the field of bone research,” stated Ulrika Pettersson, Associate Professor in the Department of Pharmacology and Clinical Neuroscience, Umea University, and co-author of the study. The finding has been published in the world-leading journal Nature Genetics.